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- Journal Article
- open access
Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience
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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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- Journal Article
- A1
- open access
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
(2019) -
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
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Hypotonia and delayed motor development as an early presentation of Lowe syndrome : case report and literature review
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- Journal Article
- A1
- open access
Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
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Diplopia as presenting sign of Turcot syndrome
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Detailed clinical phenotyping of oxalate maculopathy in primary hyperoxaluria type 1 and review of the literature
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Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
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Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
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SLC24A5 Mutations are associated with non-syndromic oculocutaneous albinism
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The use of propranolol in the treatment of periocular infantile haemangiomas: a review
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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes
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Myopia: more than a refractive error: Lasik and retinal dystrophies
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Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).